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The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program
Author(s) -
la Marca Giancarlo,
Malvagia Sabrina,
Funghini Silvia,
Pasquini Elisabetta,
Moneti Gloriano,
Guerrini Renzo,
Zammarchi Enrico
Publication year - 2009
Publication title -
rapid communications in mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.528
H-Index - 136
eISSN - 1097-0231
pISSN - 0951-4198
DOI - 10.1002/rcm.4289
Subject(s) - tyrosinemia , pediatric neurology , university hospital , neurology , pediatrics , medicine , family medicine , chemistry , psychiatry , biochemistry , tyrosine
Tyrosinemia type I (MIM 276700) is an autosomal recessive disorder due to the deficiency of fumarylacetoacetic hydrolase (EC 3.7.1.2), the last enzyme in the tyrosine metabolism. This condition, if not treated, is characterized by severe liver failure and renal and neurological involvement. The availability of an effective treatment has increased the need to improve early detection and has made this disease an eligible candidate for